Case Report: Novel GLA mutation in a Chinese female with renal-predominant Fabry disease and cardiac hypertrophy
BackgroundFabry disease (FD) is a rare X-linked lysosomal storage disorder caused by GLA gene mutations, leading to deficient α-galactosidase A (α-Gal A) activity and progressive accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3) in multiple tissues. Diagnosis remain...
Na minha lista:
| Principais autores: | , , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Frontiers Media S.A.
2026-01-01
|
| coleção: | Frontiers in Genetics |
| Assuntos: | |
| Acesso em linha: | https://www.frontiersin.org/articles/10.3389/fgene.2025.1664286/full |
| Tags: |
Sem tags, seja o primeiro a adicionar uma tag!
|